Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)

A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilater...

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Detalles Bibliográficos
Autores principales: Biesecker, Leslie G., Edwards, Matthew, O'Donnell, Sheridan, Doherty, Paula, MacDougall, Thomas, Tith, Kate, Kazakin, Julia, Schwartz, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996520/
https://www.ncbi.nlm.nih.gov/pubmed/32014856
http://dx.doi.org/10.1101/mcs.a004549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996520/
https://www.ncbi.nlm.nih.gov/pubmed/32014856
http://dx.doi.org/10.1101/mcs.a004549

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